In Vitro Efficacy Testing Services for Fragile X Syndrome

We provide robust and sensitive in vitro screening and characterization platforms for accelerating the discovery and screening of potential therapies for Fragile X Syndrome. Our service offers comprehensive analysis of molecular, cellular, and functional endpoints relevant to Fragile X pathology, enabling evaluation of candidate compounds and interventions. Key targets and pathways include FMRP (Fragile X Mental Retardation Protein), synaptic signaling cascades, mGluR5 signaling, and cholinergic neurotransmission. We assess associated pathological processes such as impaired synaptic plasticity, altered neurotransmitter release, and dysregulated gene expression.

We offer a diverse portfolio of in vitro assays including enzymatic, biochemical, molecular, and electrophysiological techniques tailored to Fragile X Syndrome research. These methods enable quantitative and qualitative assessment of compound activity, protein interactions, gene expression, and synaptic function, supporting the identification and optimization of therapeutic candidates.

Acetylthiocholine as substrate: Used in enzymatic assays to evaluate cholinesterase activity, relevant for assessing cholinergic dysfunction in Fragile X models.

Bioluminescence resonance energy transfer (BRET) assay: A sensitive technique for monitoring real-time protein-protein or protein-ligand interactions in living cells, facilitating the study of signaling pathways implicated in Fragile X Syndrome.

ELISA assay: A quantitative immunoassay to detect and measure proteins, peptides, and antibodies, useful for monitoring levels of FMRP and other biomarkers.

Fluorescent assay: Enables detection of target molecules or cellular events through fluorescence, supporting high-throughput screening of drug effects on signaling and gene expression.

RNA assay: Quantifies gene expression changes at the transcript level, providing insight into the molecular impact of candidate compounds on Fragile X-associated genes.

Radioactivity assay: Measures enzyme activity or ligand binding using radiolabeled substrates, offering high sensitivity for pharmacological profiling.

Voltage-clamp assay: An electrophysiological technique to assess ion channel function and synaptic responses, critical for evaluating neuronal excitability and synaptic plasticity in Fragile X models.

We measure a range of key pharmacological parameters such as potency, efficacy, and selectivity to provide comprehensive profiles of candidate compounds. These parameters are essential for comparing drug candidates, optimizing lead compounds, and informing dose selection for further development.

EC-50: The concentration of a compound that produces 50% of its maximal effect, providing a standard measure of drug potency.

IC-50: The concentration required to inhibit a specific biological or biochemical function by 50%, widely used to assess inhibitor effectiveness.

Ki: The inhibition constant representing the binding affinity of an inhibitor for its target, important for understanding selectivity and mechanism.

MEC: The minimum effective concentration at which a compound produces a measurable biological effect, guiding dose optimization.

pIC-50: The negative logarithm of the IC-50 value, used for easier comparison of compound potencies across assays.

Recommended In Vitro Efficacy Tests

5-Hydroxytryptamine Receptor 2B

Our 5-Hydroxytryptamine Receptor 2B (5-HT2B) testing service supports Fragile X Syndrome drug development by evaluating compounds that modulate this receptor, which plays a role in neurodevelopmental signaling dysregulated in Fragile X. Using Bioluminescence Resonance Energy Transfer (BRET) and fluorescent assays, we determine key pharmacological parameters—EC50, pIC50, and Ki—to assess potency and binding affinity, aiding in the identification of promising therapeutic candidates.

Acetylcholinesterase (Yt Blood Group)

Acetylcholinesterase (Yt Blood Group) is implicated in cholinergic dysfunction observed in Fragile X Syndrome. Testing its activity is vital for evaluating drug efficacy and safety. Our service offers RNA assays and ELISA assays, using acetylthiocholine as a substrate, to quantify enzyme modulation. Key pharmacological parameters measured include pIC-50, IC-50, and MEC, providing precise data to guide Fragile X Syndrome drug development.

Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha2

Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha2 (GABA_A α2) is implicated in the altered inhibitory neurotransmission seen in Fragile X Syndrome. Testing its function is crucial for evaluating potential therapeutics targeting GABAergic pathways. Our service employs sensitive radioactivity binding assays to measure ligand affinity, providing key parameters such as Ki values, which are essential for assessing drug-receptor interactions and guiding Fragile X Syndrome drug development.

Glutamate Metabotropic Receptor 5

The Glutamate Metabotropic Receptor 5 (mGluR5) is implicated in the synaptic dysfunction observed in Fragile X Syndrome. Testing mGluR5 activity is crucial for evaluating potential drug efficacy. Our service utilizes a sensitive fluorescent assay to measure receptor modulation, providing precise IC50 values for candidate compounds. This enables rapid, quantitative assessment of drug potency, supporting the development of targeted therapies for Fragile X Syndrome.

Phosphodiesterase 4D

Phosphodiesterase 4D (PDE4D) is implicated in dysregulated cAMP signaling observed in Fragile X Syndrome (FXS), contributing to cognitive and behavioral deficits. PDE4D testing is crucial for evaluating drug candidates targeting this pathway. Key methods include enzyme activity assays and expression analysis in relevant cellular or animal FXS models. Main parameters assessed are PDE4D activity levels, cAMP concentrations, and response to pharmacological modulation, providing insights for therapeutic development.

Potassium Calcium-Activated Channel Subfamily M Alpha 1

Potassium Calcium-Activated Channel Subfamily M Alpha 1 (KCaMα1) is implicated in neuronal excitability dysregulation in Fragile X Syndrome. Assessing this channel’s function is vital for evaluating potential therapeutics targeting neuronal signaling. Our testing service utilizes voltage-clamp assays to accurately measure channel activity, determining compound potency through IC-50 values. This enables efficient screening and optimization of drug candidates for Fragile X Syndrome intervention.